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Procedural Document: Rare Disease Nomenclature in English

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Procedural Document: Rare Disease Nomenclature in English | Version 01 | April 2017 Procedural document: Rare disease nomenclature in English www.orpha.net www.orphadata.org Table of contents I. Introduction ................................................................................................................................................... 4 1. Purpose/objectives ................................................................................................................................... 4 2. Disclaimer ................................................................................................................................................ 4 3. Range of application ................................................................................................................................ 4 4. References ............................................................................................................................................... 4 5. Definitions ............................................................................................................................................... 5 6. Filing and updates .................................................................................................................................... 5 II. METHODOLOGY ...................................................................................................................................... 6 1. Flowchart ................................................................................................................................................. 6 2. Description............................................................................................................................................... 6 III. Naming Rules ............................................................................................................................................. 8 1. Formal rules ............................................................................................................................................. 8 a) Grammatical number ........................................................................................................................ 8 b) Diacritics and special letters ............................................................................................................. 8 c) Greek letters ..................................................................................................................................... 8 d) Capital letters .................................................................................................................................... 8 e) English orthographic variants ........................................................................................................... 9 f) Hypens ................................................................................................................................................. 9 g) Chemical nomenclature .................................................................................................................. 10 h) Gene nomenclature ......................................................................................................................... 10 i) Protein nomenclature ......................................................................................................................... 10 2. General editorial rules ........................................................................................................................... 10 a) Priority to clinical practice ............................................................................................................. 10 b) Word order ..................................................................................................................................... 11 c) Latin expressions ............................................................................................................................ 11 d) Former nomenclatures .................................................................................................................... 11 e) Comparative use of certain words .................................................................................................. 11 f) Common ways of naming diseases .................................................................................................... 13 g) Providing contrast between similar diseases .................................................................................. 15 h) Acronyms as preferred terms ......................................................................................................... 17 3. Specific editorial rules ........................................................................................................................... 17 a) Deletions and duplications of chromosomes .................................................................................. 17 b) Metabolic diseases .......................................................................................................................... 18 Procedural document on Rare disease nomenclature in English. April 2017 – Number 01 2 www.orpha.net/orphacom/cahiers/docs/GB/Disease_naming_rules_in_English_R1_Nom_01.pdf c) Endocrinology ................................................................................................................................ 18 d) Infectiology-parasitology ............................................................................................................... 19 Procedural document on Rare disease nomenclature in English. April 2017 – Number 01 3 www.orpha.net/orphacom/cahiers/docs/GB/Disease_naming_rules_in_English_R1_Nom_01.pdf I. Introduction 1. Purpose/objectives There is no international consensus so far, on how rare diseases should generally be named. This document aims to define a set of rules to be used in the Orphanet database in order to promote a correct nomenclature. As far as possible the Orphanet nomenclature is: Based on clinical practice ; Validated by experts of the field; Comprehensive; Consistent ; Stable, as far as possible when taking into account the rate of evolution of scientific knowledge. A good name must be self-sufficient and should avoid ambiguity with similar diseases. 2. Disclaimer This publication is part of Joint Action 677024 RD-ACTION which has received funding from the European Union’s Health Programme (2014-2020). The content of this publication represents the views of the author only and is his sole responsibility; it can not be considered to reflect the views of the European Commission and/or the Consumers, Health, Agriculture and Food Executive Agency or any other body of the European Union. The European Commission and the Agency do not accept any responsibility for use that may be made of the information it contains. 3. Range of application The present naming rules apply to all disorder entities listed in the Orphanet database, whatever their typology (groups of disorders, disorders or subtypes). The Orphanet nomenclature of rare diseases is managed by the information scientists in charge of disease inventory and classification, under responsibility of the scientific director. Experts are regularly consulted to adjust decisions. 4. References Some international biomedical terminologies are consulted to implement the rules defined here: International Classification of Diseases, version 10 (ICD-10, edited by the World Health Organization). International Classification of Diseases for oncology, version 3 (ICD-O-3, edited by the World Health Organization). MeSH (Medical Subject Headings) (http://www.ncbi.nlm.nih.gov/mesh). International Union of Pure and Applied Chemistry - IUPAC. International Union of Biochemistry and Molecular Biology - IUBMB. HUGO Gene Nomenclature Committee - HGNC. UniProt knowledgebase – UniProt-KB. Fima Lifshitz (ed.), Pediatric Endocrinology, New York: Informa Healthcare, cop. 2007, vol. 2, ISBN Procedural document on Rare disease nomenclature in English. April 2017 – Number 01 4 www.orpha.net/orphacom/cahiers/docs/GB/Disease_naming_rules_in_English_R1_Nom_01.pdf 978-1-420-04270-2. Ch. 1 “Worrisome Growth”, p.1 Orphanet procedures: Orphanet inventory of rare diseases Procedures on experts’ selection procedures is going to be published soon. 5. Definitions Acronyms are included only when actually used in literature: convenience acronyms used in Orphanet summaries that have no use in the scientific community are not included. Several entities can share the same acronym. Editorial rules are a set of good practices aimed at ensuring some degree of consistency in the nomenclature. They deal with the semantic content of the nomenclature. In contrast with formal rules, they should be regarded as recommendations rather than prescriptions, and are interpreted by the information scientists according to the context of the relevant disease. Experts mentioned in this procedural document are the health professionals identified by Orphanet as leaders in the medical field for a rare disorder or a group of rare disorders. Formal rules are designed to ensure consistency of spelling and grammar throughout the Orphanet nomenclature. They do not deal with the semantic content of nomenclature. They form a conventional reference frame; their prescriptions are not supposed to be interpreted, but to be applied whatever the context. Keywords are significant terms for a disease or group of disease, that are usefully retained for redirecting users to relevant
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